Canonical Allele Identifier: PA104747
Gene: GM2A HGNC NCBI
ClinVar RCV:
RCV000000421
ClinVar Variation:
390
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000396.2:p.Cys138Arg
CA114233
NM_000405.5:c.412T>C